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    DLD dihydrolipoamide dehydrogenase [ Homo sapiens (human) ]

    Gene ID: 1738, updated on 10-Dec-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Pan-Cancer Analysis of the Cuproptosis-Related Gene DLD.

    Pan-Cancer Analysis of the Cuproptosis-Related Gene DLD.
    Lin J, Wang G, Cheng S, Hu Y, Li H, Feng W, Liu X, Xu C., Free PMC Article

    12/20/2023
    Lipoamide dehydrogenase (LADH) deficiency: medical perspectives of the structural and functional characterization of LADH and its pathogenic variants.

    Lipoamide dehydrogenase (LADH) deficiency: medical perspectives of the structural and functional characterization of LADH and its pathogenic variants.
    Szabó E, Ambrus A.

    07/19/2023
    Dihydrolipoamide dehydrogenase regulates cystine deprivation-induced ferroptosis in head and neck cancer.

    Dihydrolipoamide dehydrogenase regulates cystine deprivation-induced ferroptosis in head and neck cancer.
    Shin D, Lee J, You JH, Kim D, Roh JL., Free PMC Article

    04/17/2021
    Molecular characterization of dihydrolipoamide dehydrogenase binding sites to titanium dioxide has been reported.

    The involvement of coordinative interactions in the binding of dihydrolipoamide dehydrogenase to titanium dioxide-Localization of a putative binding site.
    Dayan A, Babin G, Ganoth A, Kayouf NS, Nitoker Eliaz N, Mukkala S, Tsfadia Y, Fleminger G.

    04/7/2018
    study found that individuals infected with HBV withwith basal core promoter (BCP) double mutations (A1762T, G1764A)have lower concentrations of serum DLD than those with the wild-type BCP

    Hepatitis B Virus Core Promoter Double Mutations (A1762T, G1764A) Are Associated with Lower Levels of Serum Dihydrolipoyl Dehydrogenase.
    Jiang ZH, Chen QY, Harrison TJ, Li GJ, Wang XY, Li H, Hu LP, Li KW, Yang QL, Tan C, Fang ZL., Free PMC Article

    03/4/2017
    Mitochondrial dihydrolipoamide dehydrogenase is upregulated in response to the brain intermittent hypoxic preconditioning.

    Mitochondrial Dihydrolipoamide Dehydrogenase is Upregulated in Response to Intermittent Hypoxic Preconditioning.
    Li R, Luo X, Wu J, Thangthaeng N, Jung ME, Jing S, Li L, Ellis DZ, Liu L, Ding Z, Forster MJ, Yan LJ., Free PMC Article

    02/20/2016
    IgA autoantibody against DLD could be a novel diagnostic marker for endometrial cancer.

    Proteomic identification of dihydrolipoamide dehydrogenase as a target of autoantibodies in patients with endometrial cancer.
    Yoneyama K, Shibata R, Igarashi A, Kojima S, Kodani Y, Nagata K, Kurose K, Kawase R, Takeshita T, Hattori S.

    11/22/2014
    Case Report: novel mutation in the DLD interface giving rise to DLD deficiency.

    Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.
    Quintana E, Pineda M, Font A, Vilaseca MA, Tort F, Ribes A, Briones P.

    04/12/2014
    Human, mouse, and pig Dld has moonlighting function as a protease in addition to its canonical function as a a dehydrogenase.

    Cryptic proteolytic activity of dihydrolipoamide dehydrogenase.
    Babady NE, Pang YP, Elpeleg O, Isaya G, Babady NE, Pang YP, Elpeleg O, Isaya G., Free PMC Articles: PMC1851069, PMC1851069

    01/27/2014
    This molecular dynamics study proposes the structural changes that may lead to the modulation in reactive oxygen species generation by pathogenic mutants of human dihydrolipoamide dehydrogenase.

    Molecular dynamics study of the structural basis of dysfunction and the modulation of reactive oxygen species generation by pathogenic mutants of human dihydrolipoamide dehydrogenase.
    Ambrus A, Adam-Vizi V.

    11/30/2013
    ATP consumption is demonstrated in respiration-impaired isolated and in situ neuronal somal mitochondria from transgenic mice that exhibit a 20-48% decrease in alpha-ketoglutarate dehydrogenase activity.

    The negative impact of α-ketoglutarate dehydrogenase complex deficiency on matrix substrate-level phosphorylation.
    Kiss G, Konrad C, Doczi J, Starkov AA, Kawamata H, Manfredi G, Zhang SF, Gibson GE, Beal MF, Adam-Vizi V, Chinopoulos C., Free PMC Article

    08/3/2013
    the cryptic activities of DLD promote oxidative damage to neighboring molecules and thus contribute to the clinical severity of DLD mutations

    Mutations in the dimer interface of dihydrolipoamide dehydrogenase promote site-specific oxidative damages in yeast and human cells.
    Vaubel RA, Rustin P, Isaya G., Free PMC Article

    01/7/2012
    Structural and thermodynamic basis for weak interactions between dihydrolipoamide dehydrogenase and subunit-binding domain of the branched-chain alpha-ketoacid dehydrogenase complex.

    Structural and thermodynamic basis for weak interactions between dihydrolipoamide dehydrogenase and subunit-binding domain of the branched-chain alpha-ketoacid dehydrogenase complex.
    Brautigam CA, Wynn RM, Chuang JL, Naik MT, Young BB, Huang TH, Chuang DT., Free PMC Article

    09/10/2011
    This protein has been found differentially expressed in the Wernicke's Area from patients with schizophrenia.

    Proteome analysis of schizophrenia patients Wernicke's area reveals an energy metabolism dysregulation.
    Martins-de-Souza D, Gattaz WF, Schmitt A, Novello JC, Marangoni S, Turck CW, Dias-Neto E., Free PMC Article

    05/29/2009
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (2) articles

    Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ.

    Association of the dihydrolipoamide dehydrogenase gene with Alzheimer's disease in an Ashkenazi Jewish population.
    Brown AM, Gordon D, Lee H, Caudy M, Hardy J, Haroutunian V, Blass JP.

    03/13/2008
    kinetic studies suggest that T148 is not important to E3 catalytic function and R281 plays a role in the catalytic function of E3

    The role of amino acids T148 and R281 in human dihydrolipoamide dehydrogenase.
    Wang YC, Wang ST, Li C, Chen LY, Liu WH, Chen PR, Chou MC, Liu TC.

    01/21/2010
    Certain DLD mutations can simultaneously induce the loss of a primary metabolic activity and the gain of a moonlighting proteolytic activity thus contributing to the metabolic derangement associated with DLD deficiency.

    Cryptic proteolytic activity of dihydrolipoamide dehydrogenase.
    Babady NE, Pang YP, Elpeleg O, Isaya G, Babady NE, Pang YP, Elpeleg O, Isaya G., Free PMC Articles: PMC1851069, PMC1851069

    01/21/2010
    model of the pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and binding of the E1 and E3 components

    Organization of the cores of the mammalian pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and their capacities to bind the E1 and E3 components.
    Hiromasa Y, Fujisawa T, Aso Y, Roche TE.

    01/21/2010
    These results suggest that N286 and D320 play a role in the catalytic function of the E3.

    The role of N286 and D320 in the reaction mechanism of human dihydrolipoamide dehydrogenase (E3) center domain.
    Wang YC, Wang ST, Li C, Liu WH, Chen PR, Chen LY, Liu TC.

    01/21/2010
    specificity of pairing for human E3BP with E3 from its subcomplex structure to be most likely due to conformational rigidity of the binding fragment of the E3-binding domain of E3BP and its exquisite amino acid match with the E3 target interface

    How dihydrolipoamide dehydrogenase-binding protein binds dihydrolipoamide dehydrogenase in the human pyruvate dehydrogenase complex.
    Ciszak EM, Makal A, Hong YS, Vettaikkorumakankauv AK, Korotchkina LG, Patel MS.

    01/21/2010
    A c.1444A>G substitution in E3 exon 13, predictive of a p.R482G (or R447G in the processed gene product) substitution in a highly conserved domain of the protein was found.

    A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
    Odièvre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rötig A, Rustin P, Bonnefont JP.

    01/21/2010
    the disease-causing mutations of E3 occur at three locations in the human enzyme: the dimer interface, the active site, and the FAD and NAD(+)-binding sites

    Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations.
    Brautigam CA, Chuang JL, Tomchick DR, Machius M, Chuang DT.

    01/21/2010
    Activity of human dihydrolipoamide dehydrogenase is reduced by mutation at threonine-44 of FAD-binding region to valine.

    Activity of human dihydrolipoamide dehydrogenase is reduced by mutation at threonine-44 of FAD-binding region to valine.
    Kim H.

    01/21/2010
    dihydrolipoamide dehydrogenase

    Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex.
    Brautigam CA, Wynn RM, Chuang JL, Machius M, Tomchick DR, Chuang DT., Free PMC Article

    01/21/2010
    Asparagine-473 residue is important for the catalytic function of dihydrolipoamide dehydrogenase.

    Asparagine-473 residue is important to the efficient function of human dihydrolipoamide dehydrogenase.
    Kim H.

    01/21/2010
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